ClinVar for MedGen (Select 1621482) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338383	NM_006984.5(CLDN10):c.497G>A (p.Trp166Ter)	CLDN10 (W145* +2 more)	Single nucleotide variant (nonsense)	HELIX syndrome	GPathogenic
Select item 3236047	NM_006984.5(CLDN10):c.142A>C (p.Asn48His)	CLDN10 (N48H)	Single nucleotide variant (missense variant +1 more)	HELIX syndrome	GLikely pathogenic
Select item 2574668	NM_006984.5(CLDN10):c.138G>A (p.Trp46Ter)	CLDN10 (W46*)	Single nucleotide variant	HELIX syndrome	GPathogenic
Select item 974823	NM_006984.5(CLDN10):c.653del (p.Pro218fs)	CLDN10 (P197fs +2 more)	Deletion (frameshift variant)	HELIX syndrome	GPathogenic/Likely pathogenic
Select item 438638	NM_006984.5(CLDN10):c.2T>C (p.Met1Thr)	CLDN10 (M1T)	Single nucleotide variant (missense variant +2 more)	HELIX syndrome	GPathogenic
Select item 438637	NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu)	CLDN10 (S131L +2 more)	Single nucleotide variant (missense variant)	HELIX syndrome	GPathogenic
Select item 438636	NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys)	CLDN10 (N48K)	Single nucleotide variant (missense variant +1 more)	HELIX syndrome	GPathogenic

ClinVar